Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33901 | 101926;101927;101928 | chr2:178534914;178534913;178534912 | chr2:179399641;179399640;179399639 |
| N2AB | 32260 | 97003;97004;97005 | chr2:178534914;178534913;178534912 | chr2:179399641;179399640;179399639 |
| N2A | 31333 | 94222;94223;94224 | chr2:178534914;178534913;178534912 | chr2:179399641;179399640;179399639 |
| N2B | 24836 | 74731;74732;74733 | chr2:178534914;178534913;178534912 | chr2:179399641;179399640;179399639 |
| Novex-1 | 24961 | 75106;75107;75108 | chr2:178534914;178534913;178534912 | chr2:179399641;179399640;179399639 |
| Novex-2 | 25028 | 75307;75308;75309 | chr2:178534914;178534913;178534912 | chr2:179399641;179399640;179399639 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTT
- RefSeq wild type template codon: AAA
- Domain: Kinase-1
- Domain position: 89
- Q(SASA): 0.0937
- Predicted PPI site: N
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | None | D | None | 0.523 | 0.72785808063 | gnomAD-4.0.0 | 6.85716E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99459E-07 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9385 | likely_pathogenic | 0.9138 | pathogenic | -2.748 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.9185 | likely_pathogenic | 0.88 | pathogenic | -1.832 | Destabilizing | None | None | None | None | N | 0.488379036 | None | None | N |
| F/D | 0.9931 | likely_pathogenic | 0.9873 | pathogenic | -3.907 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9874 | likely_pathogenic | 0.9818 | pathogenic | -3.674 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9794 | likely_pathogenic | 0.9678 | pathogenic | -3.203 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.9615 | likely_pathogenic | 0.9409 | pathogenic | -2.224 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.8191 | likely_pathogenic | 0.7692 | pathogenic | -1.243 | Destabilizing | None | None | None | None | N | 0.484073395 | None | None | N |
| F/K | 0.9873 | likely_pathogenic | 0.9804 | pathogenic | -2.492 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.9424 | likely_pathogenic | 0.9151 | pathogenic | -1.243 | Destabilizing | None | None | None | None | N | 0.43150847 | None | None | N |
| F/M | 0.8285 | likely_pathogenic | 0.8036 | pathogenic | -0.952 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.9789 | likely_pathogenic | 0.9658 | pathogenic | -3.208 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.9977 | likely_pathogenic | 0.9951 | pathogenic | -1.761 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.9756 | likely_pathogenic | 0.9661 | pathogenic | -3.039 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9692 | likely_pathogenic | 0.9546 | pathogenic | -2.219 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.9458 | likely_pathogenic | 0.9088 | pathogenic | -3.625 | Highly Destabilizing | None | None | None | None | D | 0.524495989 | None | None | N |
| F/T | 0.9365 | likely_pathogenic | 0.9066 | pathogenic | -3.269 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.8157 | likely_pathogenic | 0.7727 | pathogenic | -1.761 | Destabilizing | None | None | None | None | D | 0.523495911 | None | None | N |
| F/W | 0.834 | likely_pathogenic | 0.7893 | pathogenic | -0.645 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.6339 | likely_pathogenic | 0.5645 | pathogenic | -1.025 | Destabilizing | None | None | None | None | N | 0.487324468 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.